Overview



Nucleotide ID c.1162del
Protein ID p.D388Mfs*42
Mutation Deletion
Type Type 2-like
Class Class B
Category #NA
COSMIC COSV104394387
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765027789999999999999999998561898999999999999999999943999


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCC


  AA: AAEKQMKDKQDEEQRLKEEEEDKKRKEEEEAEDKEDMRTKMRMRRMRRTRRKMRRKMSPA


              10        20        30        40        50        60


Conf: 99832999998202129


Pred: CCCCCHHHHHHHHHHCC


  AA: RPRTSCREACLQGWTEA


              70

References

PMIDCitation
31626697Lee JS, Kim HY, Kim M, Lee YK. A Novel Pathogenic CALR Exon 9 Mutation in a Patient with Essential Thrombocythemia. Lab Med. 2020.51(3):306-309. doi:10.1093/labmed/lmz064